Total 91 pathogenic variants reported for Aicardi-Goutieres syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_033629.6(TREX1):c.341G>A (p.Arg114His) SNV
Germline		 Chr3:48466996 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1
Systemic lupus erythematosus, susceptibility to
Condition: not provided
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Inborn genetic diseases
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
Inborn genetic diseases
TREX1-related disorder
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Systemic lupus erythematosus
Adult onset neurodegenerative disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116673 rs_72556554

30 SubmittersRCV000004396RCV000004397RCV000256102RCV000850611RCV001266495RCV002281693RCV004540989RCV005025005RCV006629049
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) SNV
Germline		 Chr3:48467145 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1
Condition: not provided
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
TREX1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340198 rs_78218009

6 SubmittersRCV000004398RCV000378411RCV001384591RCV004532286
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) SNV
Germline		 Chr3:48467257 Pathogenic Aicardi-Goutieres syndrome 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA340203 rs_78408272

3 SubmittersRCV000004400RCV001093076
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) SNV
Germline		 Chr3:48467253 Pathogenic Aicardi-Goutieres syndrome 1, autosomal dominant
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1		 Criteria Provided
Single Submitter
 CA116675 rs_78846775

3 SubmittersRCV000004402RCV000114331RCV002512754
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV
Germline		 Chr3:48466707 Pathogenic Aicardi-Goutieres syndrome 1, autosomal dominant
Aicardi-Goutieres syndrome 1
Condition: not provided
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
Chilblain lupus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116677 rs_121908117

4 SubmittersRCV000004405RCV000114329RCV000323773RCV000819829RCV001804150
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) SNV
Germline		 Chr3:48467562 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA345489 rs_76224909

3 SubmittersRCV000114335RCV002513943RCV003237442
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) SNV
Germline		 Chr3:48466995 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Systemic lupus erythematosus
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Condition: not provided
Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
TREX1-related disorder
Aicardi-Goutieres syndrome 1
Systemic lupus erythematosus
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		 Criteria Provided
Conflicting Classifications
 CA276175 rs_760838030

6 SubmittersRCV000191136RCV000763111RCV001843490RCV001857680RCV004732774RCV005365112
NM_033629.6(TREX1):c.290G>A (p.Arg97His) SNV
Germline		 Chr3:48466945 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Condition: not provided
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Systemic lupus erythematosus		 Criteria Provided
Conflicting Classifications
 CA2376620 rs_200773268

8 SubmittersRCV000490435RCV001093075RCV001853392RCV005025345
NM_033629.6(TREX1):c.9G>A (p.Ser3=) SNV
Germline		 Chr3:48466664 Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
TREX1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2376544 rs_762687506

3 SubmittersRCV000267295RCV000364247RCV000952205RCV004544641
NM_033629.6(TREX1):c.183G>A (p.Pro61=) SNV
Germline		 Chr3:48466838 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
TREX1-related disorder
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2376591 rs_55852466

6 SubmittersRCV000324543RCV000358290RCV000644056RCV004544642RCV005639111RCV005434852
NM_033629.6(TREX1):c.312G>C (p.Leu104=) SNV
Germline		 Chr3:48466967 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
TREX1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2376631 rs_56162833

3 SubmittersRCV000278897RCV000317526RCV000887494RCV004544643
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) SNV
Germline		 Chr3:48467049 Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
not specified		 Criteria Provided
Conflicting Classifications
 CA2376649 rs_200510205

2 SubmittersRCV000348530RCV000393710RCV004782369
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) SNV
Germline		 Chr3:48467284 Pathogenic Aicardi-Goutieres syndrome 1 Criteria Provided
Single Submitter
 CA10654756 rs_184953805

1 SubmittersRCV000408633
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) SNV
Germline		 Chr3:48467322 Conflicting classifications of pathogenicity Condition: not provided
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
not specified
Aicardi-Goutieres syndrome 1
Systemic lupus erythematosus
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1		 Criteria Provided
Conflicting Classifications
 CA2376707 rs_766785968

9 SubmittersRCV000433529RCV001340342RCV001330236RCV004701472RCV005027489
NM_033629.6(TREX1):c.219G>A (p.Pro73=) SNV
Germline		 Chr3:48466874 Conflicting classifications of pathogenicity not specified
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2376602 rs_778992418

4 SubmittersRCV000517608RCV002527552RCV003231629
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) SNV
Germline		 Chr3:48466873 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Condition: not provided
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Systemic lupus erythematosus
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
Chilblain lupus 1		 Criteria Provided
Conflicting Classifications
 CA2376601 rs_755919767

8 SubmittersRCV000626116RCV000656254RCV000764509RCV001219467
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) SNV
Germline		 Chr3:48467484 Likely pathogenic Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1		 Criteria Provided
Single Submitter
 CA352619854 rs_1553820518

1 SubmittersRCV002528907
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) SNV
Germline		 Chr3:48467375 Conflicting classifications of pathogenicity Condition: not provided
Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
not specified		 Criteria Provided
Conflicting Classifications
 CA2376720 rs_72556555

4 SubmittersRCV000713869RCV001084349RCV003323699
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) SNV
Unknown		 Chr3:48467163 Pathogenic Aicardi-Goutieres syndrome 1 Criteria Provided
Single Submitter
 CA352618322 rs_768724007

1 SubmittersRCV000761485
NM_033629.6(TREX1):c.-26-1G>A SNV
Germline		 Chr3:48466629 Conflicting classifications of pathogenicity TREX1-related disorder
Condition: not provided
Aicardi-Goutieres syndrome 1		 Criteria Provided
Conflicting Classifications
 CA2376532 rs_749323787

5 SubmittersRCV000785138RCV003320742RCV005414267
NM_033629.6(TREX1):c.651G>A (p.Arg217=) SNV
Germline		 Chr3:48467306 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1		 Criteria Provided
Conflicting Classifications
 CA2376703 rs_140199177

2 SubmittersRCV000915247RCV001143911RCV001143910
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) SNV
Germline		 Chr3:48466837 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Condition: not provided
See cases		 Criteria Provided
Conflicting Classifications
 CA73932620 rs_777034646

3 SubmittersRCV000987264RCV001759678RCV002252278
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) SNV
Germline		 Chr3:48467001 Conflicting classifications of pathogenicity Condition: not provided
Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1		 Criteria Provided
Conflicting Classifications
 CA2376638 rs_761651331

3 SubmittersRCV000998068RCV001222016RCV001145696RCV001145697
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) SNV
Germline		 Chr3:48467451 Likely pathogenic Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1		 Criteria Provided
Single Submitter
 CA352619666 rs_757478752

1 SubmittersRCV001036420
NM_033629.6(TREX1):c.120C>T (p.His40=) SNV
Germline		 Chr3:48466775 Conflicting classifications of pathogenicity Condition: not provided
Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1		 Criteria Provided
Conflicting Classifications
 CA2376573 rs_758622317

2 SubmittersRCV001093074RCV002069613
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) SNV
Germline		 Chr3:48467128 Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2376663 rs_762011967

4 SubmittersRCV001148458RCV001148457RCV001246935RCV001759906RCV004963153
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) SNV
Germline		 Chr3:48467304 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1		 Criteria Provided
Conflicting Classifications
 CA2376701 rs_201068640

2 SubmittersRCV001150037RCV001150038RCV001858981
NM_033629.6(TREX1):c.846A>G (p.Leu282=) SNV
Germline		 Chr3:48467501 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1		 Criteria Provided
Conflicting Classifications
 CA73933311 rs_374232562

2 SubmittersRCV001145806RCV001145807RCV001403819
NM_033629.6(TREX1):c.1A>G (p.Met1Val) SNV
Germline		 Chr3:48466656 Conflicting classifications of pathogenicity Systemic lupus erythematosus
Condition: not provided
Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		 Criteria Provided
Conflicting Classifications
 CA2376541 rs_761165865

3 SubmittersRCV001198990RCV001839030RCV001863135
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) SNV
Germline		 Chr3:48467058 Pathogenic Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1		 Criteria Provided
Single Submitter
 CA352618034 rs_746384382

1 SubmittersRCV001380882
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) SNV
Germline		 Chr10:14953916 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Aicardi-Goutieres syndrome 1
Severe combined immunodeficiency disease
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA203404964 rs_969498121

5 SubmittersRCV001965262RCV003471090RCV004526885RCV004542188RCV004577007RCV005042564
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) SNV
Germline		 Chr3:48467012 Pathogenic Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		 Criteria Provided
Single Submitter
 CA73932832 rs_747399274

1 SubmittersRCV001972795
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu) SNV
Germline		 Chr3:48467333 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2376710 rs_139228069

2 SubmittersRCV003074450RCV004070397
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn) SNV
Germline		 Chr3:48467443 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA352619616 rs_2530046089

2 SubmittersRCV003002542RCV004681595
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg) SNV
Germline		 Chr3:48467293 Conflicting classifications of pathogenicity Condition: not provided
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA352618819 rs_1356874913

3 SubmittersRCV003142764RCV003778810RCV004963569
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala) SNV
Germline		 Chr3:48467116 Likely pathogenic Aicardi-Goutieres syndrome 1 Criteria Provided
Single Submitter
 CA352618157 rs_2530040403

1 SubmittersRCV003228864
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu) SNV
Germline		 Chr3:48466996 Likely pathogenic Aicardi-Goutieres syndrome 1 Criteria Provided
Single Submitter
 CA352617907 rs_72556554

1 SubmittersRCV003448553
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter) SNV
Germline		 Chr3:48467004 Pathogenic Aicardi-Goutieres syndrome 1
Chilblain lupus 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		 Criteria Provided
Single Submitter
 CA352617921 rs_2530038411

1 SubmittersRCV003799082
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter) SNV
Germline		 Chr3:48467220 Pathogenic Aicardi-Goutieres syndrome 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1		 Criteria Provided
Single Submitter
 CA352618540 rs_1336906464

1 SubmittersRCV003801502